G70C (p.Gly70Cys) variant of NOTCH3 (Q9UM47)
G70C (p.Gly70Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
G70C (p.Gly70Cys) variant details
- p.Gly70Cys
- rs1379608507
- ClinGen CA404535199
- ClinVar RCV003721166
- ClinVar RCV004539064
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.29
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.06
- MutPred 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available